口腔医学研究 ›› 2017, Vol. 33 ›› Issue (6): 633-636.DOI: 10.13701/j.cnki.kqyxyj.2017.06.014

• 临床研究论著 • 上一篇    下一篇

ENPP1基因rs6925433位点基因多态性在喀什地区维吾尔族人群中的分布调查

葛树鹏, 韩祥祯, 周琦琪, 宋艳艳, 何惠宇*   

  1. 新疆医科大学第一附属医院口腔修复科 新疆 乌鲁木齐 830054
  • 收稿日期:2016-11-26 出版日期:2017-06-20 发布日期:2017-06-26
  • 通讯作者: 何惠宇,E-mail:hehuiyu01@126.com
  • 作者简介:葛树鹏(1993~ ),男,山东人,硕士,住院医师,主要从事口腔修复学临床及基础的研究工作。
  • 基金资助:
    新疆维吾尔自治区科技厅科技支疆项目(编号201591191)

Study on ENPP1 Gene SNP Rs6925433 Polymorphism among Uyghur Nationality in Kashgar.

GE Shu-peng, HAN Xiang-zhen, ZHOU Qi-qi, SONG Yan-yan, HE Hui-yu*   

  1. Department of Prosthodontics, the First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China
  • Received:2016-11-26 Online:2017-06-20 Published:2017-06-26

摘要: 目的:研究新疆喀什地区维吾尔族人群中焦磷酸合成酶1(ENPP1)基因rs6925433多态性位点的分布特征。方法:采用横断面研究方法,以喀什地区疏附县213例维吾尔族个体为对象,采用棉拭子法取双侧颊黏膜脱落上皮细胞,提取基因组DNA,利用PCR和双脱氧末端终止法基因测序,结合DNAstar和Chromas 2等软件进行基因分型,统计分析受试人群基因型频率和等位基因频率,并与已报道的其他地区民族基因数据进行比较分析。结果:喀什地区维吾尔族人群中ENPP1基因rs6925433位点GG,AG和AA的基因型频率分布分别为28.17%,50.23%和21.60% ,A/G等位基因频率分布A=46.71%,G=53.29%;与北京汉族人群相比,维吾尔族人群rs6925433位点GG型分布高,AA型分布低(P=0.046);与欧洲人群相比,维吾尔族人群该SNP位点GG型分布低,AA型分布高(P=0.010),差异均具有统计学意义;在上述3个人群中,A/G等位基因频率分布未见明显差别。结论:新疆喀什地区维吾尔族人群与其他民族人群rs6925433位点基因多态性分布特征明显不同。

关键词: ENPP1基因, 单核苷酸多态性, 维吾尔族

Abstract: Objective: To explore the gene polymorphisms distribution of ectonucleotide phosphodiesterase 1 (ENPP1) SNP rs6925433 among Uyghur nationality in Kashgar, Xinjiang. Methods: Two hundred and thirteen oral epithelial sample cells were collected from Uyghur nationality people, gene sequencing by dideoxy-mediated chain termination method after whole-genome DNA extraction, the distribution of gene polymorphisms of this study was analyzed by DNA star and Chromas 2 software, then compared with other nationalities which had been reported. Results: Among the Uyghur nationality in Kashgar, the frequencies of rs6925433 GG, AG, and AA gene types were 28.17%,50.23%, and 21.60%, and the allele frequency of A/G were 46.71% and 53.29%. Compared with other nationalities, it was found that the frequency of GG was higher and AA was lower than Beijing Han nationality (P=0.046), and AA was higher and GG was lower than Northern and Western European (P=0.010). Conclusion: The gene polymorphisms distribution of ectonucleotide phosphodiesterase (ENPP1) SNP rs6925433 among Uyghur nationality in Kashgar was obviously different from other nationalities.

Key words: Ectonucleotide phosphodiesterase (ENPP1), Single nucleonic polymorphisms , Uyghur nationality

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